Variant report

Variant	rs4930364
Chromosome Location	chr11:66176138-66176139
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr11:66175939-66176192	GM12878	blood:	n/a	n/a
2	REST	chr11:66175851-66176251	Hela-S3	cervix:	n/a	n/a
3	GTF2F1	chr11:66175981-66176140	K562	blood:	n/a	n/a
4	FOXM1	chr11:66175786-66176214	GM12878	blood:	n/a	n/a
5	REST	chr11:66175832-66176252	HepG2	liver:	n/a	n/a
6	UBTF	chr11:66175910-66176236	K562	blood:	n/a	n/a
7	MAZ	chr11:66175834-66177120	IMR90	lung:	n/a	chr11:66176754-66176764 chr11:66176815-66176825 chr11:66176463-66176472 chr11:66176103-66176110 chr11:66176550-66176560 chr11:66176100-66176110 chr11:66176101-66176110
8	CHD2	chr11:66175948-66176625	H1-hESC	embryonic stem cell:	n/a	chr11:66176485-66176495
9	SIN3A	chr11:66175951-66176490	GM12878	blood:	n/a	chr11:66176363-66176376
10	ARID3A	chr11:66175809-66176213	K562	blood:	n/a	n/a
11	MAFK	chr11:66175856-66176178	HepG2	liver:	n/a	chr11:66175995-66176006 chr11:66175995-66176006 chr11:66175994-66176008 chr11:66175996-66176007 chr11:66175995-66176010 chr11:66175996-66176007
12	CTCF	chr11:66176000-66176150	GM12869	blood:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
13	REST	chr11:66175847-66176282	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr11:66175766-66176333	SK-N-SH_RA	brain:	n/a	chr11:66176032-66176051 chr11:66176100-66176119 chr11:66176101-66176115
15	CTCF	chr11:66176000-66176150	HA-sp	spinal cord:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
16	MXI1	chr11:66175784-66176743	IMR90	lung:	n/a	chr11:66176463-66176478
17	MAX	chr11:66175855-66176345	A549	lung:	n/a	chr11:66176103-66176110 chr11:66176100-66176110 chr11:66176101-66176110
18	CTCF	chr11:66175894-66176251	LNCaP	prostate:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
19	NRF1	chr11:66175995-66176208	GM12878	blood:	n/a	n/a
20	RAD21	chr11:66175827-66176294	Hela-S3	cervix:	n/a	chr11:66176032-66176051 chr11:66176100-66176119 chr11:66176101-66176115
21	CTCF	chr11:66175607-66176728	SK-N-SH	brain:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
22	MAX	chr11:66175943-66176222	GM12878	blood:	n/a	chr11:66176103-66176110 chr11:66176100-66176110 chr11:66176101-66176110
23	MAX	chr11:66175845-66176703	H1-hESC	embryonic stem cell:	n/a	chr11:66176463-66176472 chr11:66176103-66176110 chr11:66176550-66176560 chr11:66176100-66176110 chr11:66176101-66176110
24	MTA3	chr11:66175940-66176191	GM12878	blood:	n/a	n/a
25	SRF	chr11:66175892-66176885	ECC-1	luminal epithelium:	n/a	chr11:66176569-66176582 chr11:66176571-66176580 chr11:66176569-66176582 chr11:66176567-66176585 chr11:66176567-66176581
26	YY1	chr11:66175856-66176277	GM12878	blood:	n/a	chr11:66176082-66176093
27	CTCF	chr11:66176000-66176150	HMEC	breast:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
28	REST	chr11:66175913-66176259	K562	blood:	n/a	n/a
29	CTCF	chr11:66175885-66176243	LNCaP	prostate:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
30	CTCF	chr11:66175919-66176230	GM13976	blood:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
31	CCNT2	chr11:66175949-66176452	K562	blood:	n/a	n/a
32	BACH1	chr11:66175844-66176622	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr11:66175944-66176668	H1-hESC	embryonic stem cell:	n/a	chr11:66176463-66176472 chr11:66176103-66176110 chr11:66176550-66176560 chr11:66176100-66176110 chr11:66176101-66176110
34	CTCF	chr11:66176000-66176150	GM12864	blood:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
35	MAX	chr11:66175801-66176708	H1-hESC	embryonic stem cell:	n/a	chr11:66176463-66176472 chr11:66176103-66176110 chr11:66176550-66176560 chr11:66176100-66176110 chr11:66176101-66176110
36	MAX	chr11:66175801-66176708	ECC-1	luminal epithelium:	n/a	chr11:66176463-66176472 chr11:66176103-66176110 chr11:66176550-66176560 chr11:66176100-66176110 chr11:66176101-66176110
37	PAX5	chr11:66175863-66176194	GM12878	blood:	n/a	n/a
38	ELF1	chr11:66175873-66176259	K562	blood:	n/a	chr11:66176078-66176090
39	CTCF	chr11:66175204-66176687	HCT-116	colon:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
40	CTCF	chr11:66175912-66176252	Fibrobl	skin:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
41	RAD21	chr11:66175879-66176215	GM12878	blood:	n/a	chr11:66176032-66176051 chr11:66176100-66176119 chr11:66176101-66176115
42	TEAD4	chr11:66175868-66176695	H1-hESC	embryonic stem cell:	n/a	n/a
43	POU2F2	chr11:66175838-66176279	GM12878	blood:	n/a	chr11:66176078-66176090
44	CTCF	chr11:66175654-66176531	MCF-7	breast:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
45	USF1	chr11:66175829-66176252	A549	lung:	n/a	n/a
46	REST	chr11:66175928-66176572	ECC-1	luminal epithelium:	n/a	chr11:66176488-66176498
47	CTCF	chr11:66175849-66176326	HepG2	liver:	n/a	chr11:66176031-66176049 chr11:66176099-66176117 chr11:66176100-66176116 chr11:66176033-66176054 chr11:66176032-66176048 chr11:66176102-66176115
48	MAZ	chr11:66175877-66176517	K562	blood:	n/a	chr11:66176463-66176472 chr11:66176103-66176110 chr11:66176100-66176110 chr11:66176101-66176110
49	SIN3AK20	chr11:66175956-66176676	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr11:66175940-66176208	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66174951..66176605-chr11:66445089..66446742,2	K562	blood:
2	chr11:66175952..66176562-chr22:22307122..22307643,11	MCF-7	breast:
3	chr11:66175611..66176479-chr11:66196191..66196952,2	MCF-7	breast:
4	chr11:66175946..66178663-chr11:66245836..66248085,2	MCF-7	breast:
5	chr11:66175578..66176202-chr11:66188836..66189792,2	MCF-7	breast:
6	chr11:66175605..66176523-chr11:66185197..66186603,7	MCF-7	breast:
7	chr11:66175949..66176473-chr22:22307122..22307642,2	MCF-7	breast:
8	chr11:66175311..66177198-chr11:66444334..66447325,3	MCF-7	breast:
9	chr11:66175414..66176542-chr11:66185549..66186525,4	MCF-7	breast:
10	chr11:66171206..66173547-chr11:66174703..66176452,2	MCF-7	breast:
11	chr11:66175626..66176497-chr15:51177798..51178394,2	MCF-7	breast:
12	chr11:66175767..66176587-chr11:66193010..66193598,2	MCF-7	breast:
13	chr11:66175850..66176382-chr11:66195828..66196350,2	MCF-7	breast:
14	chr11:66174529..66176605-chr11:66189846..66192239,2	K562	blood:
15	chr1:213456481..213457001-chr11:66175964..66176468,2	MCF-7	breast:
16	chr11:66175166..66176626-chr11:66445371..66446673,13	K562	blood:
17	chr11:66173655..66176306-chr11:66183166..66186139,2	K562	blood:
18	chr11:66176012..66176524-chr11:66461911..66462505,2	MCF-7	breast:
19	chr11:66175582..66176505-chr11:66206048..66207084,8	MCF-7	breast:
20	chr11:66175969..66177016-chr11:66205724..66207101,6	K562	blood:
21	chr11:66175540..66176515-chr11:66246071..66247001,9	MCF-7	breast:
22	chr11:66175989..66176499-chr11:66247624..66248342,2	K562	blood:
23	chr11:66175552..66176768-chr11:66206161..66207112,4	MCF-7	breast:
24	chr11:66175716..66176550-chr11:66461857..66462562,3	MCF-7	breast:
25	chr11:66174524..66177610-chr11:66443614..66447044,3	K562	blood:
26	chr11:66175584..66176533-chr11:66461850..66462853,5	K562	blood:
27	chr11:66079011..66079863-chr11:66175658..66176448,3	MCF-7	breast:
28	chr11:66153788..66154297-chr11:66176029..66176543,2	K562	blood:
29	chr1:213456500..213457001-chr11:66175929..66176493,3	MCF-7	breast:
30	chr11:65989904..65990810-chr11:66176021..66176586,2	K562	blood:
31	chr11:66175633..66176152-chr17:73511564..73512519,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254510	TF binding region
ENSG00000100034	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000177303	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000174576	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000182173	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	1.00[EUR][1000 genomes]
rs10750787	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10791871	1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	1.00[EUR][1000 genomes]
rs1320675	1.00[EUR][1000 genomes]
rs1532823	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[EUR][1000 genomes]
rs1700188	1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	1.00[EUR][1000 genomes]
rs1785624	1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[EUR][1000 genomes]
rs3016763	1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[EUR][1000 genomes]
rs3867130	0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4290235	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4930358	1.00[EUR][1000 genomes]
rs4930359	1.00[EUR][1000 genomes]
rs4930361	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs495264	1.00[EUR][1000 genomes]
rs525698	1.00[EUR][1000 genomes]
rs670900	1.00[EUR][1000 genomes]
rs7104297	1.00[EUR][1000 genomes]
rs7105162	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7125100	1.00[EUR][1000 genomes]
rs7130857	1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[EUR][1000 genomes]
rs908693	1.00[EUR][1000 genomes]
rs948359	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66173600-66176400	Weak transcription	Spleen	Spleen
2	chr11:66175600-66176600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:66175800-66176200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr11:66175800-66176200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:66175800-66176200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:66175800-66176200	Enhancers	Colon Smooth Muscle	Colon
7	chr11:66175800-66176200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr11:66175800-66176800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:66175800-66176800	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:66175800-66177400	Bivalent Enhancer	Fetal Thymus	thymus
11	chr11:66176000-66176200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:66176000-66176200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:66176000-66176200	Enhancers	Primary B cells from cord blood	blood
14	chr11:66176000-66176200	Active TSS	Primary T cells from cord blood	blood
15	chr11:66176000-66176200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:66176000-66176200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:66176000-66176200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr11:66176000-66176200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:66176000-66176200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:66176000-66176200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:66176000-66176200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:66176000-66176200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:66176000-66176200	Active TSS	Brain Cingulate Gyrus	brain
24	chr11:66176000-66176200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr11:66176000-66176200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr11:66176000-66176200	Active TSS	A549	lung
27	chr11:66176000-66176200	Bivalent/Poised TSS	HepG2	liver
28	chr11:66176000-66176400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:66176000-66176400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr11:66176000-66176400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:66176000-66176400	Active TSS	Right Ventricle	heart
32	chr11:66176000-66176400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:66176000-66176400	Active TSS	Hela-S3	cervix
34	chr11:66176000-66176600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:66176000-66176600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:66176000-66176600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr11:66176000-66176600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr11:66176000-66176600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:66176000-66176600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr11:66176000-66176600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:66176000-66176600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:66176000-66176600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
43	chr11:66176000-66176600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:66176000-66176600	Active TSS	Brain Anterior Caudate	brain
45	chr11:66176000-66176600	Active TSS	Brain Hippocampus Middle	brain
46	chr11:66176000-66176600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:66176000-66176600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr11:66176000-66176600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr11:66176000-66176600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:66176000-66176600	Active TSS	HSMM	muscle

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